Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

BACKGROUND: Scientists have previously described an overgrowth syndrome in Saudi patients and named it ‘Upper limb muscle overgrowth with hypoplasia of the index finger’ syndrome. CASE PRESENTATION: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140...

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Detalles Bibliográficos
Autores principales: Al-Qattan, Mohammad M., Hadadi, Ali, Al-Thunayan, Abdullah M., Eldali, Ahmed A., AlBalwi, Mohammed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123902/
https://www.ncbi.nlm.nih.gov/pubmed/30180809
http://dx.doi.org/10.1186/s12881-018-0672-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123902/
https://www.ncbi.nlm.nih.gov/pubmed/30180809
http://dx.doi.org/10.1186/s12881-018-0672-z

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